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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
German Competence Network for Congenital Heart Defects, Oct 2021, In: Genetics in medicine. 23, 10, p. 1952-1960 9 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
Lahrouchi, N., Postma, A. V., Salazar, C. M., de Laughter, D. M., Tjong, F., Piherová, L., Bowling, F. Z., Zimmerman, D., Lodder, E. M., Ta-Shma, A., Perles, Z., Beekman, L., Ilgun, A., Gunst, Q., Hababa, M., Škorić-Milosavljević, D., Stránecký, V., Tomek, V., de Knijff, P. & de Leeuw, R. & 36 others, , 1 Mar 2021, In: Journal of clinical investigation. 131, 5, e142148.Research output: Contribution to journal › Article* › Academic › peer-review
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Computer versus cardiologist: Is a machine learning algorithm able to outperform an expert in diagnosing a phospholamban p.Arg14del mutation on the electrocardiogram?
Bleijendaal, H., Ramos, L. A., Lopes, R. R., Verstraelen, T. E., Baalman, S. W. E., Oudkerk Pool, M. D., Tjong, F. V. Y., Melgarejo-Meseguer, F. M., Gimeno-Blanes, F. J., Gimeno-Blanes, J. R., Amin, A. S., Winter, M. M., Marquering, H. A., Kok, W. E. M., Zwinderman, A. H., Wilde, A. A. M. & Pinto, Y. M., 1 Jan 2021, In: Heart rhythm. 18, 1, p. 79-87 9 p.Research output: Contribution to journal › Article* › Academic › peer-review
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